Mutagenetix > Incidental Mutations

Incidental Mutation 'R6028:Eps8l2'

480172

Institutional Source

Beutler Lab

Gene Symbol

Eps8l2

Ensembl Gene

ENSMUSG00000025504

Gene Name

EPS8-like 2

Synonyms

MMRRC Submission

044200-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141338880-141363020 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141357833 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 422 (F422S)

Ref Sequence

ENSEMBL: ENSMUSP00000026577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026577] [ENSMUST00000143633]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026577
AA Change: F422S

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: F422S

Domain	Start	End	E-Value	Type
Pfam:PTB	51	181	6.6e-50	PFAM
Pfam:PID	52	175	5.9e-9	PFAM
low complexity region	196	209	N/A	INTRINSIC
low complexity region	284	299	N/A	INTRINSIC
SH3	498	553	2.11e-15	SMART
PDB:1WWU\|A	614	700	2e-46	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140025

Predicted Effect

probably benign
Transcript: ENSMUST00000143633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210158

Meta Mutation Damage Score

0.8310

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null mutation display late onset progressive hearing loss and gradual deterioration of cochlear hair cell stereocilliary bundles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,479,569		probably null	Het
Acat1	A	T	9: 53,592,066	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,342,324	A924E	probably damaging	Het
Adck1	A	T	12: 88,402,132	M127L	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alad	G	T	4: 62,510,122	T305K	probably benign	Het
Ankrd33	T	C	15: 101,119,072	F65S	probably damaging	Het
Ap3d1	T	C	10: 80,722,927	N281S	possibly damaging	Het
Arhgap30	A	G	1: 171,408,320	D754G	probably benign	Het
Asah2	T	C	19: 32,016,514	D438G	probably damaging	Het
Cachd1	C	A	4: 100,983,556	N905K	probably damaging	Het
Cdh23	G	T	10: 60,534,535	D160E	probably damaging	Het
Cntln	T	A	4: 84,971,173	S298T	probably benign	Het
Dnah5	T	A	15: 28,387,833	M3146K	probably damaging	Het
Doc2b	C	A	11: 75,772,586	A347S	probably benign	Het
Esm1	A	G	13: 113,216,667	N161S	possibly damaging	Het
Fbxw10	C	T	11: 62,873,519	Q671*	probably null	Het
Fnbp4	C	A	2: 90,751,134	T177K	probably benign	Het
Gm11639	T	C	11: 104,769,655		probably null	Het
Gm6803	A	T	12: 88,018,361	D137E	possibly damaging	Het
Gpr137c	C	A	14: 45,277,481	Q266K	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hk1	C	A	10: 62,353,058	K25N	probably null	Het
Klhl29	G	T	12: 5,090,995	Y616*	probably null	Het
Lman1l	A	G	9: 57,608,263	I443T	probably damaging	Het
Lmnb1	T	G	18: 56,743,276	Y485*	probably null	Het
Lrrc63	A	G	14: 75,086,174	S537P	possibly damaging	Het
Ltbp2	T	A	12: 84,784,852	N1686I	probably damaging	Het
Map9	T	A	3: 82,380,248		probably null	Het
Marco	T	A	1: 120,490,942	Q194L	probably damaging	Het
Mc3r	A	T	2: 172,249,209	D117V	probably damaging	Het
Meltf	T	A	16: 31,887,476	D259E	possibly damaging	Het
Mical1	A	T	10: 41,486,877	M973L	probably benign	Het
Mmp21	T	C	7: 133,678,714	T176A	probably benign	Het
Mterf1b	T	A	5: 4,197,666		probably null	Het
Muc16	G	A	9: 18,657,176	S1349F	unknown	Het
Nacc2	A	G	2: 26,061,578	V415A	probably damaging	Het
Ncl	A	G	1: 86,356,133	V322A	probably benign	Het
Neb	G	A	2: 52,193,231	T1639I	probably damaging	Het
Nfia	A	G	4: 98,111,251	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,558,337	T460I	probably benign	Het
Olfr1079	T	A	2: 86,538,769	I49F	possibly damaging	Het
Olfr938	T	A	9: 39,078,083	I221F	probably damaging	Het
Patl2	T	A	2: 122,126,137	Q158L	possibly damaging	Het
Pja2	T	C	17: 64,309,090	D270G	probably benign	Het
Pkd1l1	T	C	11: 8,836,267	H1929R	probably benign	Het
Plekhh3	A	T	11: 101,166,570	M287K	probably damaging	Het
Polb	G	T	8: 22,639,995	S187*	probably null	Het
Popdc3	A	G	10: 45,317,919	D272G	probably benign	Het
Prkar2b	A	T	12: 31,993,758	D121E	possibly damaging	Het
Psmd3	T	A	11: 98,685,665	L131Q	probably damaging	Het
Ptcd3	A	T	6: 71,898,408	C197S	probably damaging	Het
Ptprf	A	T	4: 118,213,629	V1391D	probably benign	Het
Purb	A	G	11: 6,475,150	F246S	probably damaging	Het
Rgs8	C	A	1: 153,690,988	T95N	probably damaging	Het
Slc2a13	T	C	15: 91,276,116	N545S	probably damaging	Het
Smpd2	A	G	10: 41,489,348	W51R	probably damaging	Het
Srgap1	T	C	10: 121,828,730	Q490R	probably null	Het
Strbp	G	A	2: 37,625,255	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,559,826	M145K	probably damaging	Het
Taf5l	A	C	8: 124,002,975		probably null	Het
Tas2r131	T	G	6: 132,957,676	I57L	probably benign	Het
Tcf25	A	G	8: 123,381,437	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,017,811	T57A	possibly damaging	Het
Tspan17	A	G	13: 54,793,298	N130S	probably damaging	Het
Utrn	T	C	10: 12,654,716	S2118G	probably benign	Het
Vmn2r3	T	A	3: 64,275,277	T334S	probably benign	Het
Wnk2	G	T	13: 49,076,345	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,307,340	T947A	probably benign	Het
Zfhx3	C	T	8: 108,793,503	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549	S258P	probably damaging	Het
Zfp964	A	G	8: 69,663,913	T388A	unknown	Het

Other mutations in Eps8l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Eps8l2	APN	7	141357663	missense	probably benign	0.06
IGL01444:Eps8l2	APN	7	141361375	splice site	probably benign
IGL01467:Eps8l2	APN	7	141361601	missense	probably damaging	1.00
IGL01803:Eps8l2	APN	7	141358230	missense	probably benign
IGL02598:Eps8l2	APN	7	141354936	splice site	probably benign
IGL02823:Eps8l2	APN	7	141342075	missense	probably damaging	1.00
IGL03061:Eps8l2	APN	7	141357235	unclassified	probably benign
IGL03112:Eps8l2	APN	7	141361736	missense	probably damaging	1.00
IGL03251:Eps8l2	APN	7	141342962	missense	probably damaging	1.00
R0057:Eps8l2	UTSW	7	141342971	missense	probably benign	0.08
R0133:Eps8l2	UTSW	7	141362207	missense	unknown
R0361:Eps8l2	UTSW	7	141356199	missense	probably benign	0.05
R0409:Eps8l2	UTSW	7	141342980	missense	probably damaging	1.00
R0611:Eps8l2	UTSW	7	141355733	missense	probably damaging	1.00
R1487:Eps8l2	UTSW	7	141361618	missense	probably benign
R1679:Eps8l2	UTSW	7	141361057	missense	probably damaging	1.00
R1914:Eps8l2	UTSW	7	141361852	missense	probably damaging	1.00
R1915:Eps8l2	UTSW	7	141361852	missense	probably damaging	1.00
R1918:Eps8l2	UTSW	7	141361724	missense	probably damaging	0.99
R2098:Eps8l2	UTSW	7	141355792	unclassified	probably null
R2170:Eps8l2	UTSW	7	141342071	missense	probably benign	0.02
R3429:Eps8l2	UTSW	7	141357919	critical splice donor site	probably null
R3734:Eps8l2	UTSW	7	141357821	missense	probably damaging	1.00
R4296:Eps8l2	UTSW	7	141358262	nonsense	probably null
R4701:Eps8l2	UTSW	7	141357260	missense	probably damaging	1.00
R4758:Eps8l2	UTSW	7	141360373	missense	probably damaging	0.98
R5564:Eps8l2	UTSW	7	141356621	missense	possibly damaging	0.94
R5567:Eps8l2	UTSW	7	141355007	missense	possibly damaging	0.95
R5570:Eps8l2	UTSW	7	141355007	missense	possibly damaging	0.95
R5735:Eps8l2	UTSW	7	141360377	missense	probably damaging	1.00
R5893:Eps8l2	UTSW	7	141357624	missense	probably damaging	1.00
R5905:Eps8l2	UTSW	7	141357833	missense	possibly damaging	0.89
R5927:Eps8l2	UTSW	7	141356346	missense	probably benign
R6248:Eps8l2	UTSW	7	141342102	missense	probably damaging	0.99
R6631:Eps8l2	UTSW	7	141356202	missense	probably damaging	1.00
R7152:Eps8l2	UTSW	7	141355765	missense	possibly damaging	0.95
R7231:Eps8l2	UTSW	7	141360392	missense	probably damaging	1.00
Z1177:Eps8l2	UTSW	7	141342095	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGACACTGTGGGAATCACTG -3'
(R):5'- AAGGTGACCTGGCATTGTAGG -3'

Sequencing Primer
(F):5'- CTGTGGGAATCACTGGGGGAG -3'
(R):5'- GGTAGAAGACATTGTTGCTTTAGAAG -3'

Posted On

2017-06-26